Canonical Allele Identifier: CA372894408

Gene: GLDC

Linked Data

• gnomAD v4: 9-6595115-A-T
• MyVariant Identifiers: chr9:g.6595115A>T (hg19) ; chr9:g.6595115A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595115A>T , CM000671.2:g.6595115A>T	GRCh38
NC_000009.11:g.6595115A>T , CM000671.1:g.6595115A>T	GRCh37
NC_000009.10:g.6585115A>T	NCBI36
NG_016397.1:g.55578T>A , LRG_643:g.55578T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1160T>A MANE Select	ENSP00000370737.4:p.Leu387His
ENST00000638654.1:c.407T>A	ENSP00000491101.1:p.Leu136His
ENST00000639364.1:n.860T>A
ENST00000639443.1:n.728T>A
ENST00000639493.1:n.312T>A
ENST00000639954.1:n.868T>A
ENST00000640592.1:n.1043T>A
ENST00000321612.6:c.1160T>A	ENSP00000370737.3:p.Leu387His
ENST00000463305.1:n.244T>A
NM_000170.2:c.1160T>A , LRG_643t1:c.1160T>A	NP_000161.2:p.Leu387His
NM_000170.3:c.1160T>A MANE Select	NP_000161.2:p.Leu387His